RGD:28905527 Rat Genome Database

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Variant: RGD:28905527 -  Homo sapiens

RGD ID: 28905527
RS ID: rs1801621217
ClinVar ID: CV900459
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUSC3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 15,397,582
GRCh38 8 15,540,073
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.15540073A>G
NM_006765.3:c.-358A>G
NC_000008.10:g.15397582A>G
NM_001413670.1:c.79-83007A>G
More... 		01/12/2018 intron variant uncertain significance Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUSC3
Accession:NM_001413671
Location:5UTRS;INTRON

Gene Symbol:TUSC3
Accession:NM_001413669
Location:5UTRS;INTRON

Gene Symbol:TUSC3
Accession:NM_001413672
Location:5UTRS;INTRON

Gene Symbol:TUSC3
Accession:NM_006765
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413685
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413676
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413673
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001356429
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413680
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413687
Location:INTRON

Gene Symbol:TUSC3
Accession:XM_047422265
Location:INTRON

Gene Symbol:TUSC3
Accession:XM_047422264
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413691
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413690
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413688
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413683
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413682
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413681
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413674
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413583
Location:INTRON

Gene Symbol:TUSC3
Accession:XM_047422263
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413679
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_178234
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413670
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413684
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413689
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413677
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413678
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413686
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413675
Location:INTRON

Gene Symbol:TUSC3
Accession:NR_182195
Location:INTRON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182196
Location:INTRON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182199
Location:INTRON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182197
Location:INTRON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182198
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001158483 CLINVAR
dbSNP (RS) rs1801621217 CLINVAR
MedGen C0282577 CLINVAR
NCBI Gene TUSC3 CLINVAR
OMIM 601385 CLINVAR
SNOMED CT 238049009 CLINVAR